Disease association ontology term - MONDO:0019666 - spondyloepimetaphyseal dysplasia, PAPSS2 type
Term summary
- ID
- MONDO:0019666
- Name
- spondyloepimetaphyseal dysplasia, PAPSS2 type
- Ontology or CV name
- Disease association
- Definition
- A spondyloepimetaphyseal dysplasia characterized by short stature, short and bowed lower limbs, mild brachydactyly, kyphoscoliosis, abnormal gait, enlarged knee joints, precocious osteoarthropathy, and normal intelligence.
